Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ITGA10 0 genome.wustl.edu 37 1 145537786 145537786 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 1 145537786 145537786 G A SNP ITGA10 ENST00000369304 human ensembl 74_37 +1 known missense c.2624 p.R875Q 0.983 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 110 0 0 42 22 34.375 LCE1A 0 genome.wustl.edu 37 1 152800031 152800031 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 1 152800031 152800031 A C SNP LCE1A ENST00000335123 human ensembl 74_37 +1 known missense c.83 p.K28T 0.171 NULL NULL - no_errors LCE1A HGNC ENSG00000186844 113 0 0 104 31 22.963 UBE2Q1 0 genome.wustl.edu 37 1 154524996 154524996 + RNA SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 1 154524996 154524996 C G SNP UBE2Q1 ENST00000483639 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors UBE2Q1 HGNC ENSG00000160714 34 0 0 39 10 20.4082 SPTA1 0 genome.wustl.edu 37 1 158654936 158654936 + Silent SNP A A G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 1 158654936 158654936 A G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.226 p.L76 0.008 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 50 0 0 44 11 20 PAPPA2 0 genome.wustl.edu 37 1 176668606 176668606 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 1 176668606 176668606 G A SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known silent c.3117 p.Q1039 0.126 superfamily_Fibronectin_type3 pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 113 0 0 130 30 18.75 ASTN1 0 genome.wustl.edu 37 1 176992545 176992545 + Missense_Mutation SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 1 176992545 176992545 T C SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.1433 p.E478G 1.000 smart_EG-like_dom superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 26 0 0 6 8 57.1429 KCNT2 0 genome.wustl.edu 37 1 196309524 196309524 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 1 196309524 196309524 G A SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.1730 p.S577L 0.738 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 71 0 0 40 34 45.9459 MAPKAPK2 0 genome.wustl.edu 37 1 206905271 206905271 + RNA SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 1 206905271 206905271 G A SNP MAPKAPK2 ENST00000479009 human ensembl 74_37 +1 putative rna NULL NULL 0.751 - - - no_errors MAPKAPK2 HGNC ENSG00000162889 125 0 0 123 27 18 OBSCN 0 genome.wustl.edu 37 1 228432100 228432100 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 1 228432100 228432100 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.3309 p.T1103 0.030 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 119 0 0 106 35 24.8227 CHML 0 genome.wustl.edu 37 1 241797705 241797705 + Missense_Mutation SNP G G C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 1 241797705 241797705 G C SNP CHML ENST00000366553 human ensembl 74_37 -1 known missense c.1364 p.S455C 0.997 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC ENSG00000203668 99 0 0 90 22 19.6429 OR2T6 0 genome.wustl.edu 37 1 248551519 248551519 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 1 248551519 248551519 G A SNP OR2T6 ENST00000355728 human ensembl 74_37 +1 known missense c.610 p.V204I 0.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2T6 HGNC ENSG00000198104 56 0 0 31 31 50 RHCE 0 genome.wustl.edu 37 1 25712312 25712312 + Silent SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 1 25712312 25712312 C T SNP RHCE ENST00000294413 human ensembl 74_37 -1 known silent c.963 p.G321 0.000 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHCE HGNC ENSG00000188672 153 0 0 89 33 27.0492 LRRC7 0 genome.wustl.edu 37 1 70503883 70503883 + Silent SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 1 70503883 70503883 T C SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known silent c.2262 p.R754 0.874 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 199 0 0 116 21 15.3285 SLC44A5 0 genome.wustl.edu 37 1 75680342 75680342 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 1 75680342 75680342 A C SNP SLC44A5 ENST00000370855 human ensembl 74_37 -1 known missense c.1750 p.F584V 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 34 0 0 16 5 23.8095 COL24A1 0 genome.wustl.edu 37 1 86241374 86241374 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 1 86241374 86241374 C T SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.4357 p.G1453S 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 39 0 0 13 5 27.7778 PNLIPRP3 0 genome.wustl.edu 37 10 118236283 118236283 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 10 118236283 118236283 A C SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known missense c.1292 p.K431T 0.620 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 44 0 0 39 16 29.0909 ZWINT 0 genome.wustl.edu 37 10 58120973 58120973 + Nonsense_Mutation SNP C C A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 10 58120973 58120973 C A SNP ZWINT ENST00000373944 human ensembl 74_37 -1 known nonsense c.25 p.E9* 0.003 NULL NULL - no_errors ZWINT HGNC ENSG00000122952 33 0 0 23 7 23.3333 NELL1 0 genome.wustl.edu 37 11 20907013 20907013 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 11 20907013 20907013 C T SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known missense c.530 p.P177L 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 52 0 0 25 8 24.2424 BDNF 0 genome.wustl.edu 37 11 27680025 27680025 + Missense_Mutation SNP T T G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 11 27680025 27680025 T G SNP BDNF ENST00000438929 human ensembl 74_37 -1 known missense c.333 p.Q111H 1.000 NULL pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel - no_errors BDNF HGNC ENSG00000176697 135 0 0 75 53 41.4062 ELP4 0 genome.wustl.edu 37 11 31625310 31625310 + Splice_Site SNP A A G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 11 31625310 31625310 A G SNP ELP4 ENST00000379163 human ensembl 74_37 +1 novel splice_site c.514-2 e5-2 0.008 - - - no_errors ELP4 HGNC ENSG00000109911 48 0 0 48 11 18.6441 OR51A7 0 genome.wustl.edu 37 11 4928970 4928970 + Missense_Mutation SNP T T G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 11 4928970 4928970 T G SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known missense c.371 p.L124R 0.990 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 76 0 0 43 19 30.6452 OR5M3 0 genome.wustl.edu 37 11 56237885 56237885 + Missense_Mutation SNP A A G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 11 56237885 56237885 A G SNP OR5M3 ENST00000312240 human ensembl 74_37 -1 known missense c.89 p.L30P 0.858 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 83 0 0 59 26 30.5882 TNKS1BP1 0 genome.wustl.edu 37 11 57068505 57068505 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 11 57068505 57068505 C T SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known missense c.4982 p.R1661H 0.987 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 42 0 0 23 3 11.5385 OR52L1 0 genome.wustl.edu 37 11 6007679 6007679 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 11 6007679 6007679 C T SNP OR52L1 ENST00000332249 human ensembl 74_37 -1 known missense c.482 p.C161Y 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52L1 HGNC ENSG00000183313 81 0 0 41 19 31.6667 PELI3 0 genome.wustl.edu 37 11 66236332 66236332 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 11 66236332 66236332 G A SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known missense c.181 p.E61K 0.999 NULL pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 29 0 0 5 9 64.2857 ZNF214 0 genome.wustl.edu 37 11 7022511 7022511 + Missense_Mutation SNP T T G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 11 7022511 7022511 T G SNP ZNF214 ENST00000278314 human ensembl 74_37 -1 known missense c.403 p.N135H 0.560 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF214 HGNC ENSG00000149050 117 0 0 62 36 36.7347 ANAPC15 0 genome.wustl.edu 37 11 71820914 71820914 + RNA SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 11 71820914 71820914 C T SNP ANAPC15 ENST00000543015 human ensembl 74_37 -1 putative rna NULL NULL 0.021 - - - no_errors ANAPC15 HGNC ENSG00000110200 54 0 0 40 7 14.8936 ANAPC15 0 genome.wustl.edu 37 11 71820961 71820961 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 11 71820961 71820961 C T SNP ANAPC15 ENST00000227618 human ensembl 74_37 -1 known missense c.332 p.G111D 1.000 NULL NULL - no_errors ANAPC15 HGNC ENSG00000110200 53 0 0 45 7 13.4615 C2CD3 0 genome.wustl.edu 37 11 73829385 73829385 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 11 73829385 73829385 C T SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.1408 p.D470N 0.938 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 85 0 0 51 7 12.069 TALDO1 0 genome.wustl.edu 37 11 764872 764872 + RNA SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 11 764872 764872 C G SNP TALDO1 ENST00000532202 human ensembl 74_37 +1 putative rna NULL NULL 0.003 - - - no_errors TALDO1 HGNC ENSG00000177156 98 0 0 122 17 12.2302 FAT3 0 genome.wustl.edu 37 11 92086977 92086977 + Nonsense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 11 92086977 92086977 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known nonsense c.1699 p.R567* 0.109 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 54 0 0 38 16 29.6296 SBNO1 0 genome.wustl.edu 37 12 123810084 123810084 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 12 123810084 123810084 G A SNP SBNO1 ENST00000420886 human ensembl 74_37 -1 known silent c.1938 p.G646 0.153 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 159 0 0 58 95 62.0915 DHX37 0 genome.wustl.edu 37 12 125473527 125473527 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 12 125473527 125473527 C G SNP DHX37 ENST00000308736 human ensembl 74_37 -1 known missense c.42 p.Q14H 0.999 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 27 0 0 10 14 58.3333 SLC2A13 0 genome.wustl.edu 37 12 40223997 40223997 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 12 40223997 40223997 G A SNP SLC2A13 ENST00000280871 human ensembl 74_37 -1 known silent c.1353 p.C451 0.723 superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A13 HGNC ENSG00000151229 38 0 0 30 11 26.8293 SCNN1A 0 genome.wustl.edu 37 12 6464509 6464509 + Nonsense_Mutation SNP C C A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 12 6464509 6464509 C A SNP SCNN1A ENST00000358945 human ensembl 74_37 -1 known nonsense c.1072 p.E358* 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1A HGNC ENSG00000111319 39 0 0 27 2 6.89655 GNB3 0 genome.wustl.edu 37 12 6953130 6953130 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 12 6953130 6953130 C G SNP GNB3 ENST00000229264 human ensembl 74_37 +1 known missense c.687 p.I229M 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB3 HGNC ENSG00000111664 66 0 0 57 13 18.5714 PZP 0 genome.wustl.edu 37 12 9315222 9315222 + Missense_Mutation SNP T T G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 12 9315222 9315222 T G SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.2759 p.K920T 0.010 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 62 0 0 33 11 25 ACIN1 0 genome.wustl.edu 37 14 23532171 23532171 + Silent SNP G G T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 14 23532171 23532171 G T SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known silent c.3024 p.G1008 1.000 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 103 0 0 90 29 24.3697 MIA2 0 genome.wustl.edu 37 14 39716682 39716682 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 14 39716682 39716682 C T SNP MIA2 ENST00000556784 human ensembl 74_37 +1 putative missense c.901 p.P301S 0.001 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA2 HGNC ENSG00000150526 91 0 0 63 15 19.2308 DNM1P46 0 genome.wustl.edu 37 15 100340186 100340186 + RNA SNP C C A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 15 100340186 100340186 C A SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.981 - - - no_errors DNM1P46 HGNC ENSG00000182397 29 0 0 32 4 11.1111 CASC5 0 genome.wustl.edu 37 15 40914809 40914809 + Missense_Mutation SNP G G C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 15 40914809 40914809 G C SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.2425 p.G809R 0.000 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 55 0 0 31 4 11.4286 C15orf27 0 genome.wustl.edu 37 15 76467994 76467994 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 15 76467994 76467994 G A SNP C15orf27 ENST00000388942 human ensembl 74_37 +1 known silent c.747 p.T249 0.988 NULL NULL - no_errors C15orf27 HGNC ENSG00000169758 55 0 0 35 11 23.913 WDR93 0 genome.wustl.edu 37 15 90258251 90258251 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 15 90258251 90258251 G A SNP WDR93 ENST00000268130 human ensembl 74_37 +1 known silent c.681 p.K227 1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors WDR93 HGNC ENSG00000140527 32 0 0 16 12 42.8571 LOC101930008 0 genome.wustl.edu 37 16 16415088 16415088 + RNA SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 16 16415088 16415088 C T SNP LOC101930008 ENST00000536260 human ensembl 74_37 +1 known rna NULL NULL 0.357 - - - no_errors AC138969.4 Clone_based_vega_gene ENSG00000183889 21 0 0 14 8 36.3636 LUC7L 0 genome.wustl.edu 37 16 239282 239282 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 16 239282 239282 C T SNP LUC7L ENST00000293872 human ensembl 74_37 -1 known missense c.1031 p.R344Q 0.901 NULL pfam_Luc7-rel - no_errors LUC7L HGNC ENSG00000007392 97 0 0 29 29 50 NPIPB11 0 genome.wustl.edu 37 16 29394364 29394364 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 16 29394364 29394364 C T SNP NPIPB11 ENST00000524087 human ensembl 74_37 -1 putative missense c.1889 p.G630E 0.134 NULL NULL - no_errors NPIPB11 HGNC ENSG00000254206 80 0 0 98 12 10.9091 RNF40 0 genome.wustl.edu 37 16 30779227 30779227 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 16 30779227 30779227 G A SNP RNF40 ENST00000324685 human ensembl 74_37 +1 known missense c.1442 p.R481H 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 117 0 0 87 31 26.2712 GPR56 0 genome.wustl.edu 37 16 57685210 57685210 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 16 57685210 57685210 C T SNP GPR56 ENST00000379696 human ensembl 74_37 +1 known missense c.163 p.R55C 0.060 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR56 HGNC ENSG00000205336 221 0 0 134 58 30.2083 CDRT15 0 genome.wustl.edu 37 17 14140016 14140016 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 17 14140016 14140016 G A SNP CDRT15 ENST00000431716 human ensembl 74_37 -1 novel missense c.61 p.P21S 0.001 NULL NULL - no_errors CDRT15 HGNC ENSG00000223510 26 0 0 25 4 13.7931 GAS2L2 0 genome.wustl.edu 37 17 34072128 34072128 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 17 34072128 34072128 G A SNP GAS2L2 ENST00000254466 human ensembl 74_37 -1 known silent c.2388 p.P796 1.000 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 181 0 0 125 8 6.01504 KRTAP9-8 0 genome.wustl.edu 37 17 39394378 39394378 + Silent SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 17 39394378 39394378 C G SNP KRTAP9-8 ENST00000254072 human ensembl 74_37 +1 known silent c.75 p.T25 0.935 NULL NULL - no_errors KRTAP9-8 HGNC ENSG00000187272 170 0 0 83 63 43.1507 TP53 0 genome.wustl.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 17 7578403 7578403 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.527 p.C176F 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 73 0 0 29 35 54.6875 POTEC 0 genome.wustl.edu 37 18 14542958 14542958 + Missense_Mutation SNP T T A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 18 14542958 14542958 T A SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.188 p.K63M 0.005 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 425 0 0 306 63 17.0732 GTPBP3 0 genome.wustl.edu 37 19 17450362 17450362 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 19 17450362 17450362 G A SNP GTPBP3 ENST00000358792 human ensembl 74_37 +1 known missense c.1024 p.G342S 0.896 pfam_GTP_binding_domain,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom pfam_GTP-bd_TrmE_N,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom - no_errors GTPBP3 HGNC ENSG00000130299 61 0 0 35 11 23.913 ZNF429 0 genome.wustl.edu 37 19 21719186 21719186 + Missense_Mutation SNP T T G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 19 21719186 21719186 T G SNP ZNF429 ENST00000358491 human ensembl 74_37 +1 novel missense c.331 p.L111V 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF429 HGNC ENSG00000197013 62 0 0 33 19 36.5385 ZNF429 0 genome.wustl.edu 37 19 21719297 21719297 + Missense_Mutation SNP G G T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 19 21719297 21719297 G T SNP ZNF429 ENST00000358491 human ensembl 74_37 +1 novel missense c.442 p.D148Y 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF429 HGNC ENSG00000197013 55 0 0 37 13 26 STAP2 0 genome.wustl.edu 37 19 4325405 4325405 + Nonsense_Mutation SNP C C A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 19 4325405 4325405 C A SNP STAP2 ENST00000600324 human ensembl 74_37 -1 known nonsense c.967 p.E323* 0.029 NULL pfscan_SH2 - no_errors STAP2 HGNC ENSG00000178078 138 0 0 81 44 35.2 SYNGR4 0 genome.wustl.edu 37 19 48878949 48878949 + Silent SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 19 48878949 48878949 C T SNP SYNGR4 ENST00000344846 human ensembl 74_37 +1 known silent c.411 p.L137 0.979 pfam_Marvel,pirsf_Synaptogyrin pfam_Marvel,pirsf_Synaptogyrin - no_errors SYNGR4 HGNC ENSG00000105467 128 0 0 80 24 23.0769 SYNGR4 0 genome.wustl.edu 37 19 48879318 48879318 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 19 48879318 48879318 C T SNP SYNGR4 ENST00000601610 human ensembl 74_37 +1 putative missense c.377 p.S126L 0.016 NULL pfam_Marvel - no_errors SYNGR4 HGNC ENSG00000105467 60 0 0 44 6 12 SYNGR4 0 genome.wustl.edu 37 19 48879451 48879451 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 19 48879451 48879451 C T SNP SYNGR4 ENST00000344846 human ensembl 74_37 +1 known missense c.581 p.S194F 0.011 pirsf_Synaptogyrin pfam_Marvel,pirsf_Synaptogyrin - no_errors SYNGR4 HGNC ENSG00000105467 132 0 0 100 27 21.2598 UHRF1 0 genome.wustl.edu 37 19 4947120 4947120 + RNA SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 19 4947120 4947120 C G SNP UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 0.936 - - - no_errors UHRF1 HGNC ENSG00000034063 100 0 0 77 13 14.4444 ENSG00000269349 0 genome.wustl.edu 37 19 53015497 53015497 + RNA SNP A A T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 19 53015497 53015497 A T SNP ENSG00000269349 ENST00000599143 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-3099C6.5 Clone_based_vega_gene ENSG00000269349 58 0 0 43 16 27.1186 LOC100131691 0 genome.wustl.edu 37 19 59081920 59081920 + RNA SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 19 59081920 59081920 A C SNP LOC100131691 ENST00000593642 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors AC016629.8 Clone_based_vega_gene ENSG00000267858 28 0 0 17 8 32 ZNF358 0 genome.wustl.edu 37 19 7585158 7585158 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 19 7585158 7585158 G A SNP ZNF358 ENST00000394341 human ensembl 74_37 +1 known missense c.1030 p.E344K 0.995 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF358 HGNC ENSG00000198816 157 0 0 120 56 31.8182 PXDN 0 genome.wustl.edu 37 2 1648500 1648500 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 2 1648500 1648500 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known silent c.3633 p.I1211 0.926 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 37 0 0 14 10 41.6667 TTN 0 genome.wustl.edu 37 2 179449931 179449931 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 2 179449931 179449931 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.56836 p.A18946P 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 215 0 0 151 43 22.1649 TTN 0 genome.wustl.edu 37 2 179485111 179485111 + Silent SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 2 179485111 179485111 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.38433 p.K12811 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 101 0 0 51 28 35.443 TTN 0 genome.wustl.edu 37 2 179595319 179595319 + Missense_Mutation SNP G G T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 2 179595319 179595319 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.14209 p.L4737M 0.966 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 113 1 0.877193 50 26 34.2105 TTN 0 genome.wustl.edu 37 2 179632580 179632580 + Missense_Mutation SNP T T G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 2 179632580 179632580 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.9377 p.K3126T 0.972 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 73 0 0 45 19 29.6875 APOB 0 genome.wustl.edu 37 2 21226009 21226009 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 2 21226009 21226009 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.12285 p.L4095 0.054 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 167 0 0 83 26 23.8532 USP37 0 genome.wustl.edu 37 2 219339499 219339499 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 2 219339499 219339499 C G SNP USP37 ENST00000258399 human ensembl 74_37 -1 known missense c.2153 p.R718T 1.000 pfam_Peptidase_C19/C67,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP37 HGNC ENSG00000135913 47 0 0 25 7 21.875 PAX3 0 genome.wustl.edu 37 2 223161818 223161818 + Missense_Mutation SNP A A G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 2 223161818 223161818 A G SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known missense c.200 p.I67T 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 35 0 0 20 11 35.4839 ACKR3 0 genome.wustl.edu 37 2 237489897 237489897 + Silent SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 2 237489897 237489897 C G SNP ACKR3 ENST00000272928 human ensembl 74_37 +1 known silent c.789 p.V263 0.811 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR7,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Formyl_pep_rcpt - no_errors ACKR3 HGNC ENSG00000144476 155 0 0 101 42 29.3706 PER2 0 genome.wustl.edu 37 2 239161846 239161846 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 2 239161846 239161846 C G SNP PER2 ENST00000254657 human ensembl 74_37 -1 known missense c.2818 p.E940Q 0.003 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 97 0 0 52 26 33.3333 C2orf44 0 genome.wustl.edu 37 2 24253804 24253804 + Nonstop_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 2 24253804 24253804 C G SNP C2orf44 ENST00000295148 human ensembl 74_37 -1 known nonstop c.2165 p.*722S 0.001 NULL NULL - no_errors C2orf44 HGNC ENSG00000163026 59 0 0 15 8 34.7826 ANKRD20A8P 0 genome.wustl.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 2 95522772 95522772 T C SNP ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 94 0 0 57 4 6.55738 FRG1B 0 genome.wustl.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 20 29625941 29625941 A T SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.185 p.D62V 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 106 0 0 82 6 6.81818 SGK2 0 genome.wustl.edu 37 20 42199271 42199271 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 20 42199271 42199271 G A SNP SGK2 ENST00000341458 human ensembl 74_37 +1 known silent c.555 p.L185 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors SGK2 HGNC ENSG00000101049 90 0 0 90 19 17.4312 CSE1L 0 genome.wustl.edu 37 20 47712900 47712900 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 20 47712900 47712900 G A SNP CSE1L ENST00000262982 human ensembl 74_37 +1 known silent c.2841 p.V947 1.000 pfam_CAS_CSE1_C,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 66 0 0 61 26 29.8851 NCAM2 0 genome.wustl.edu 37 21 22696742 22696742 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 21 22696742 22696742 C T SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.659 p.A220V 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 76 0 0 35 26 42.623 TIAM1 0 genome.wustl.edu 37 21 32624209 32624209 + Silent SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 21 32624209 32624209 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known silent c.1260 p.P420 0.896 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 140 0 0 32 54 62.7907 CCT8L2 0 genome.wustl.edu 37 22 17072615 17072615 + Missense_Mutation SNP G G T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 22 17072615 17072615 G T SNP CCT8L2 ENST00000359963 human ensembl 74_37 -1 known missense c.826 p.Q276K 0.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 166 0 0 125 39 23.7805 ENSG00000161103 0 genome.wustl.edu 37 22 18846113 18846113 + RNA SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 22 18846113 18846113 C T SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 26 0 0 26 3 10.3448 SEPT5 0 genome.wustl.edu 37 22 19709185 19709185 + Missense_Mutation SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 22 19709185 19709185 T C SNP SEPT5 ENST00000383045 human ensembl 74_37 +1 known missense c.767 p.I256T 0.949 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT5 HGNC ENSG00000184702 78 0 0 74 35 32.1101 BMS1P20 0 genome.wustl.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 22 22661478 22661478 T G SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors BMS1P20 HGNC ENSG00000236850 71 0 0 65 7 9.72222 POM121L9P 0 genome.wustl.edu 37 22 24659741 24659741 + RNA SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 22 24659741 24659741 G A SNP POM121L9P ENST00000414583 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POM121L9P HGNC ENSG00000128262 20 0 0 29 5 14.7059 TF 0 genome.wustl.edu 37 3 133494371 133494371 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 3 133494371 133494371 G A SNP TF ENST00000402696 human ensembl 74_37 +1 known silent c.1782 p.A594 0.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 198 0 0 125 47 27.3256 CEP63 0 genome.wustl.edu 37 3 134226057 134226057 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 3 134226057 134226057 G A SNP CEP63 ENST00000337090 human ensembl 74_37 +1 known missense c.151 p.E51K 0.987 NULL NULL - no_errors CEP63 HGNC ENSG00000182923 71 0 0 58 19 24.6753 ARHGEF26 0 genome.wustl.edu 37 3 153847444 153847444 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 3 153847444 153847444 A C SNP ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known missense c.1205 p.K402T 1.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 21 0 0 9 7 43.75 PLD1 0 genome.wustl.edu 37 3 171455827 171455827 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 3 171455827 171455827 G A SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known silent c.15 p.N5 0.097 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 47 0 0 29 17 36.9565 ZCWPW2 0 genome.wustl.edu 37 3 28562499 28562499 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 3 28562499 28562499 A C SNP ZCWPW2 ENST00000383768 human ensembl 74_37 +1 known missense c.801 p.E267D 0.897 NULL pfam_Znf_CW,pfam_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW - no_errors ZCWPW2 HGNC ENSG00000206559 40 0 0 23 10 30.303 POMGNT2 0 genome.wustl.edu 37 3 43121515 43121515 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 3 43121515 43121515 C T SNP POMGNT2 ENST00000344697 human ensembl 74_37 -1 known missense c.1409 p.G470E 0.122 NULL pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3 - no_errors POMGNT2 HGNC ENSG00000144647 67 0 0 45 23 33.8235 PARP3 0 genome.wustl.edu 37 3 51981840 51981840 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 3 51981840 51981840 C T SNP PARP3 ENST00000398755 human ensembl 74_37 +1 known missense c.1382 p.T461M 0.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP3 HGNC ENSG00000041880 281 0 0 172 25 12.6904 VGLL3 0 genome.wustl.edu 37 3 86996204 86996204 + Silent SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 3 86996204 86996204 T C SNP VGLL3 ENST00000398399 human ensembl 74_37 -1 known silent c.951 p.Q317 1.000 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL3 HGNC ENSG00000206538 68 0 0 39 15 27.7778 COL8A1 0 genome.wustl.edu 37 3 99514979 99514979 + Silent SNP A A G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 3 99514979 99514979 A G SNP COL8A1 ENST00000261037 human ensembl 74_37 +1 known silent c.2234 p.*745 0.570 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 30 0 0 14 8 36.3636 PCDH10 0 genome.wustl.edu 37 4 134071772 134071772 + Silent SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 4 134071772 134071772 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.477 p.Y159 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 122 0 0 39 32 45.0704 USP38 0 genome.wustl.edu 37 4 144106705 144106705 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 4 144106705 144106705 C G SNP USP38 ENST00000307017 human ensembl 74_37 +1 known missense c.102 p.D34E 0.967 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP38 HGNC ENSG00000170185 78 0 0 25 20 44.4444 WDFY3 0 genome.wustl.edu 37 4 85661406 85661406 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 4 85661406 85661406 G A SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.6398 p.P2133L 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 97 0 0 31 23 42.5926 APC 0 genome.wustl.edu 37 5 112111436 112111436 + Splice_Site SNP T T G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 5 112111436 112111436 T G SNP APC ENST00000257430 human ensembl 74_37 +1 known splice_site c.531+2 e4+2 1.000 - - - no_errors APC HGNC ENSG00000134982 47 0 0 19 18 48.6486 PCDHA12 0 genome.wustl.edu 37 5 140257073 140257073 + Silent SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 5 140257073 140257073 C T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.2016 p.N672 0.001 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 109 0 0 44 34 43.5897 CAMK2A 0 genome.wustl.edu 37 5 149636154 149636154 + Silent SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 5 149636154 149636154 C T SNP CAMK2A ENST00000398376 human ensembl 74_37 -1 known silent c.393 p.V131 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK2A HGNC ENSG00000070808 48 0 0 25 2 7.40741 G3BP1 0 genome.wustl.edu 37 5 151179475 151179475 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 5 151179475 151179475 C G SNP G3BP1 ENST00000356245 human ensembl 74_37 +1 known missense c.869 p.S290C 1.000 NULL pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP1 HGNC ENSG00000145907 76 0 0 19 7 26.9231 GZMK 0 genome.wustl.edu 37 5 54327247 54327247 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 5 54327247 54327247 A C SNP GZMK ENST00000231009 human ensembl 74_37 +1 known missense c.419 p.K140T 0.007 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMK HGNC ENSG00000113088 73 0 0 42 31 42.4658 LAMA4 0 genome.wustl.edu 37 6 112454672 112454672 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 6 112454672 112454672 A C SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.3575 p.L1192R 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 109 0 0 59 11 15.7143 TMEM200A 0 genome.wustl.edu 37 6 130762633 130762633 + Missense_Mutation SNP T T A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 6 130762633 130762633 T A SNP TMEM200A ENST00000296978 human ensembl 74_37 +1 known missense c.1066 p.S356T 0.000 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200A HGNC ENSG00000164484 84 0 0 27 14 34.1463 SYNE1 0 genome.wustl.edu 37 6 152804233 152804233 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 6 152804233 152804233 A C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.1337 p.L446R 0.996 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 283 0 0 151 77 33.7719 THBS2 0 genome.wustl.edu 37 6 169623561 169623561 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 6 169623561 169623561 C T SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.2783 p.R928Q 1.000 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 67 0 0 33 22 40 HIST1H4E 0 genome.wustl.edu 37 6 26204976 26204976 + Missense_Mutation SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 6 26204976 26204976 T C SNP HIST1H4E ENST00000360441 human ensembl 74_37 +1 known missense c.104 p.I35T 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4E HGNC ENSG00000198518 141 0 0 102 6 5.55556 FAM50B 0 genome.wustl.edu 37 6 3850759 3850759 + Silent SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 6 3850759 3850759 C T SNP FAM50B ENST00000380272 human ensembl 74_37 +1 novel silent c.714 p.I238 0.999 pfam_XAP5 pfam_XAP5 - no_errors FAM50B HGNC ENSG00000145945 99 0 0 46 26 36.1111 IMPG1 0 genome.wustl.edu 37 6 76751661 76751661 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 6 76751661 76751661 C T SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known missense c.250 p.E84K 1.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 54 0 0 36 17 32.0755 UFL1 0 genome.wustl.edu 37 6 96969689 96969689 + RNA SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 6 96969689 96969689 C T SNP UFL1 ENST00000461673 human ensembl 74_37 +1 known rna NULL NULL 0.055 - - - no_errors UFL1 HGNC ENSG00000014123 9 0 0 5 4 44.4444 LAMB4 0 genome.wustl.edu 37 7 107704215 107704215 + Missense_Mutation SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 7 107704215 107704215 T C SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.3052 p.T1018A 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 156 0 0 76 33 30.2752 PDIA4 0 genome.wustl.edu 37 7 148702994 148702994 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 7 148702994 148702994 C G SNP PDIA4 ENST00000286091 human ensembl 74_37 -1 known missense c.1283 p.R428T 0.984 pirsf_Protein_diS-isomerase_A4,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA4 HGNC ENSG00000155660 72 0 0 40 19 32.2034 POM121L12 0 genome.wustl.edu 37 7 53104250 53104250 + Missense_Mutation SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 7 53104250 53104250 T C SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.886 p.S296P 0.002 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 69 0 0 48 31 39.2405 ZNF727 0 genome.wustl.edu 37 7 63529967 63529967 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 7 63529967 63529967 A C SNP ZNF727 ENST00000550760 human ensembl 74_37 +1 known missense c.206 p.K69T 0.085 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF727 HGNC ENSG00000257482 11 0 0 11 3 21.4286 MDH2 0 genome.wustl.edu 37 7 75687381 75687381 + Silent SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 7 75687381 75687381 C T SNP MDH2 ENST00000315758 human ensembl 74_37 +1 known silent c.414 p.C138 0.998 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1 pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1 - no_errors MDH2 HGNC ENSG00000146701 62 0 0 25 17 40.4762 PCLO 0 genome.wustl.edu 37 7 82544694 82544694 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 7 82544694 82544694 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.12608 p.F4203C 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 38 0 0 28 9 24.3243 COL1A2 0 genome.wustl.edu 37 7 94055358 94055358 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 7 94055358 94055358 C G SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.2992 p.P998A 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 65 0 0 75 5 6.25 SPAG1 0 genome.wustl.edu 37 8 101252666 101252666 + Silent SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 8 101252666 101252666 A C SNP SPAG1 ENST00000251809 human ensembl 74_37 +1 known silent c.2316 p.A772 0.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 94 0 0 36 26 41.9355 RP1L1 0 genome.wustl.edu 37 8 10465067 10465067 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 8 10465067 10465067 C G SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.6541 p.E2181Q 0.001 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 433 0 0 161 123 43.3099 DCSTAMP 0 genome.wustl.edu 37 8 105361304 105361304 + Missense_Mutation SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 8 105361304 105361304 T C SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known missense c.524 p.L175P 0.970 NULL pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 123 0 0 88 48 35.2941 CSMD3 0 genome.wustl.edu 37 8 114111124 114111124 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 8 114111124 114111124 C G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.778 p.E260Q 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 27 0 0 37 17 31.4815 EPPK1 0 genome.wustl.edu 37 8 144941839 144941839 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 8 144941839 144941839 G A SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.5583 p.N1861 0.985 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 124 0 0 135 13 8.78378 TONSL 0 genome.wustl.edu 37 8 145666384 145666384 + Missense_Mutation SNP C C G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 8 145666384 145666384 C G SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.976 p.D326H 0.487 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 106 0 0 110 27 19.708 C8orf34 0 genome.wustl.edu 37 8 69552690 69552690 + Silent SNP T T G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 8 69552690 69552690 T G SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known silent c.1185 p.T395 0.973 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 60 0 0 41 11 21.1538 CNGB3 0 genome.wustl.edu 37 8 87588309 87588309 + Missense_Mutation SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 8 87588309 87588309 T C SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.2153 p.D718G 0.192 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 25 0 0 17 13 43.3333 FKTN 0 genome.wustl.edu 37 9 108358939 108358939 + Splice_Site SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 9 108358939 108358939 G A SNP FKTN ENST00000223528 human ensembl 74_37 +1 known splice_site c.165+1 e2+1 1.000 - - - no_errors FKTN HGNC ENSG00000106692 51 0 0 24 9 27.2727 TMEM245 0 genome.wustl.edu 37 9 111870817 111870817 + Missense_Mutation SNP C C A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 9 111870817 111870817 C A SNP TMEM245 ENST00000374586 human ensembl 74_37 -1 known missense c.613 p.V205F 1.000 NULL pfam_UPF0118 - no_errors TMEM245 HGNC ENSG00000106771 53 0 0 38 16 29.6296 ODF2 0 genome.wustl.edu 37 9 131262403 131262403 + Missense_Mutation SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 9 131262403 131262403 G A SNP ODF2 ENST00000434106 human ensembl 74_37 +1 known missense c.2359 p.E787K 1.000 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 153 0 0 94 29 23.5772 ADAMTSL2 0 genome.wustl.edu 37 9 136405731 136405731 + Missense_Mutation SNP C C T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 9 136405731 136405731 C T SNP ADAMTSL2 ENST00000393061 human ensembl 74_37 +1 known missense c.751 p.H251Y 1.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL2 HGNC ENSG00000197859 31 0 0 39 11 22 LOC100996870 0 genome.wustl.edu 37 9 66458030 66458030 + RNA SNP G G C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 9 66458030 66458030 G C SNP LOC100996870 ENST00000452184 human ensembl 74_37 +1 known rna NULL NULL 0.031 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 21 0 0 39 4 9.30233 LOC100996870 0 genome.wustl.edu 37 9 66459862 66459862 + RNA SNP T T C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 9 66459862 66459862 T C SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.133 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 19 0 0 16 4 20 LOC100996870 0 genome.wustl.edu 37 9 66459863 66459863 + RNA SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 9 66459863 66459863 G A SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.135 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 18 0 0 16 3 15.7895 TRPM6 0 genome.wustl.edu 37 9 77339623 77339623 + Missense_Mutation SNP G G T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 9 77339623 77339623 G T SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.5987 p.S1996Y 0.880 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 70 0 0 64 5 7.24638 SPATA31D1 0 genome.wustl.edu 37 9 84609013 84609013 + Missense_Mutation SNP T T G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 9 84609013 84609013 T G SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.3628 p.L1210V 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 135 0 0 80 39 32.7731 CT47B1 0 genome.wustl.edu 37 X 120009063 120009063 + Silent SNP C C A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 X 120009063 120009063 C A SNP CT47B1 ENST00000371311 human ensembl 74_37 -1 known silent c.462 p.G154 0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 94 0 0 66 10 13.1579 FIGF 0 genome.wustl.edu 37 X 15365304 15365304 + Missense_Mutation SNP A A G TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 X 15365304 15365304 A G SNP FIGF ENST00000297904 human ensembl 74_37 -1 known missense c.920 p.F307S 0.997 NULL pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors FIGF HGNC ENSG00000165197 89 0 0 56 36 39.1304 GPR64 0 genome.wustl.edu 37 X 19024132 19024132 + Silent SNP G G A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 X 19024132 19024132 G A SNP GPR64 ENST00000379869 human ensembl 74_37 -1 known silent c.1827 p.F609 0.996 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 35 0 0 12 21 63.6364 DMD 0 genome.wustl.edu 37 X 31496452 31496452 + Missense_Mutation SNP A A C TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 X 31496452 31496452 A C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.8708 p.L2903R 0.981 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 62 0 0 14 19 57.5758 NLGN4X 0 genome.wustl.edu 37 X 5821801 5821801 + Nonsense_Mutation SNP G G T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 X 5821801 5821801 G T SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known nonsense c.978 p.C326* 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 58 0 0 82 21 20.3883 OBSCN 0 genome.wustl.edu 37 1 228526004 228526004 + Frame_Shift_Del DEL G G - TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 1 228526004 228526004 G - DEL OBSCN ENST00000422127 human ensembl 74_37 +1 known frame_shift_del c.17015 p.A5674fs 1.000 superfamily_DH-domain pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 13 0 0 9 11 55 RB1 0 genome.wustl.edu 37 13 48937043 48937046 + Frame_Shift_Del DEL ACAA ACAA - TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 ACAA ACAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 13 48937043 48937046 ACAA - DEL RB1 ENST00000267163 human ensembl 74_37 +1 known frame_shift_del c.811_814 p.T271fs 1.000:1.000:1.000:1.000 NULL pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 82 0 0 47 21 30.8824 DNAH3 0 genome.wustl.edu 37 16 20998758 20998759 + Frame_Shift_Ins INS - - T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 16 20998758 20998759 - T INS DNAH3 ENST00000261383 human ensembl 74_37 -1 known frame_shift_ins c.6895_6894 p.C2298fs 0.544:0.534 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 76 0 0 47 28 37.3333 ZNF429 0 genome.wustl.edu 37 19 21719296 21719297 + Frame_Shift_Ins INS - - TA TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 19 21719296 21719297 - TA INS ZNF429 ENST00000358491 human ensembl 74_37 +1 novel frame_shift_ins c.441_442 p.D147fs 0.005:0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF429 HGNC ENSG00000197013 58 0 0 46 7 13.2075 SNRNP70 0 genome.wustl.edu 37 19 49589818 49589818 + Frame_Shift_Del DEL G G - TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 19 49589818 49589818 G - DEL SNRNP70 ENST00000598441 human ensembl 74_37 +1 known frame_shift_del c.147 p.D50fs 1.000 pfam_U1snRNP70_N pfam_U1snRNP70_N,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRNP70 HGNC ENSG00000104852 295 0 0 186 75 28.7356 ENSG00000238295 0 genome.wustl.edu 37 2 178210682 178210682 + RNA DEL A A - TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 2 178210682 178210682 A - DEL ENSG00000238295 ENST00000459157 human ensembl 74_37 -1 novel rna NULL NULL 0.012 - - - no_errors snoU13 RFAM ENSG00000238295 21 0 0 9 6 40 RBM45 0 genome.wustl.edu 37 2 178980994 178980994 + Frame_Shift_Del DEL C C - TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 2 178980994 178980994 C - DEL RBM45 ENST00000286070 human ensembl 74_37 +1 known frame_shift_del c.306 p.F102fs 0.997 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM45 HGNC ENSG00000155636 113 0 0 58 12 17.1429 BRWD1 0 genome.wustl.edu 37 21 40649222 40649223 + Frame_Shift_Ins INS - - A TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 21 40649222 40649223 - A INS BRWD1 ENST00000333229 human ensembl 74_37 -1 known frame_shift_ins c.1059_1058 p.L353fs 1.000:1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 28 0 0 23 17 42.5 NME5 0 genome.wustl.edu 37 5 137451361 137451362 + RNA INS - - T TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 5 137451361 137451362 - T INS NME5 ENST00000514481 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors NME5 HGNC ENSG00000112981 44 0 0 19 2 9.52381 TBC1D9B 0 genome.wustl.edu 37 5 179290809 179290809 + Frame_Shift_Del DEL C C - TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 5 179290809 179290809 C - DEL TBC1D9B ENST00000356834 human ensembl 74_37 -1 known frame_shift_del c.3392 p.G1131fs 0.033 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 179 0 0 91 7 7.14286 ENSG00000225411 0 genome.wustl.edu 37 9 68398095 68398095 + RNA DEL C C - TCGA-BR-A452-01A-91D-A25D-08 TCGA-BR-A452-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c31fb05d-9916-4ea7-a472-6a3e6d4eb206 d5a5bd89-908e-4538-8854-df337cd9a8d0 9 68398095 68398095 C - DEL ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.150 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 12 0 0 15 3 16.6667